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Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(3)

  • Agenesis of corpus callosumHP:0001274
  • Broad foreheadHP:0000337
  • MacrocephalyHP:0000256

Frequent (79-30%)(4)

  • Chiari type I malformationHP:0007099
  • HypertelorismHP:0000316
  • Mild intellectual disabilityHP:0001256
  • PlagiocephalyHP:0001357

Occasional (29-5%)(3)

  • Borderline intellectual disabilityHP:0006889
  • Facial asymmetryHP:0000324
  • Generalized-onset seizureHP:0002197